Fragile X Associated Tremor and Ataxia Syndrome (FXTAS) presents with widespread reactive gliosis and white-matter specific astrocyte degeneration
Objective: We will characterize neuropathological alterations of astrocytes in different regions of the FXTAS brain. Background: FXTAS is a progressive neurodegenerative disorder that occurs in…Metabolic profile in the brain with Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)
Objective: We analyzed changes in the concentration of primary metabolites in post-mortem brain samples from FXTAS cases. We also investigated how these changes relate to…Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile-X Associated Tremor/Ataxia Syndrome
Objective: To characterize the cerebrospinal fluid (CSF) profile, as well as to identify potential biomarkers, we quantitatively compared the CSF proteome of FXTAS patients with…Pain and Non-Motor Symptoms in FXTAS
Objective: To report pain and other non-motor symptoms in patients with FXTAS. Background: Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative disorder caused by CGG…Hyperintensity in Middle Cerebellar Peduncles, an infrequent and reversible finding in Marchiafava-Bignami Disease.
Objective: We present a case of Marchiafava-Bignami Disease (MBD), where reversible hyperintensity in Middle Cerebellar Peduncle (MCP-sign) is observed. Background: MCP sign is an infrequent…The Fragile X Mental Retardation Protein is lost prior to the appearance of Lewy pathology in Parkinson’s disease
Objective: The degeneration of dopaminergic (DA) substantia nigra pars compacta (SNc) neurons is a pathological hallmark of Parkinson's disease (PD). Cell death in PD is…Inertial Sensor-Based Tremor and Bradykinesia Quantification and Potential for Early Disease Identification in Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)
Objective: To quantify the severity of tremor subtypes and bradykinesia in FXTAS and potentially identify preclinical symptoms in premutation carriers (PMC) without a diagnosis of…Probing Error Signals of Postural Control in Fragile X Premutation carriers
Objective: This study aimed to characterize cortical theta activity in Fragile X Premutation carriers during continuous balance. Background: Fragile X Associated Tremor/Ataxia Syndrome (FXTAS) is…A Korean case of Fragile X-associated mild ataxia without tremor
Objective: To report a case of Fragile X-associated tremor/ataxia syndrome (FXTAS) only with mild ataxia. Background: FXTAS is a neurodegenerative disorder caused by the CGG trinucleotide…The First Chinese Case of Fragile X-associated Tremor/ Ataxia Syndrome :an underestimated disease in China
Objective: To report the first case of FXTAS from mainland of China and review the literature to find out why is FXTAS an underestimated disease in…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.